ClinVar Miner

Submissions for variant NM_001065.4(TNFRSF1A):c.283C>T (p.His95Tyr)

gnomAD frequency: 0.00001  dbSNP: rs104895290
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000083935 SCV002181907 uncertain significance TNF receptor-associated periodic fever syndrome (TRAPS) 2022-09-19 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tyrosine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 97682). This variant has not been reported in the literature in individuals affected with TNFRSF1A-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 95 of the TNFRSF1A protein (p.His95Tyr).
Mayo Clinic Laboratories, Mayo Clinic RCV003480056 SCV004226300 uncertain significance not provided 2022-06-08 criteria provided, single submitter clinical testing PM2_supporting, PS4_supporting
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083935 SCV000116047 not provided TNF receptor-associated periodic fever syndrome (TRAPS) no assertion provided not provided

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